Brugada syndrome

Brugada syndrome is a genetic condition characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac arrest due to life-threatening arrhythmias. It primarily affects the heart’s electrical system, leading to a distinctive pattern on the ECG known as the “Brugada sign,” which typically appears as ST-segment elevation in the right precordial leads (V1 to V3).

Causes and Risk Factors

Brugada syndrome is often inherited in an autosomal dominant pattern and is associated with mutations in genes that encode sodium channels, particularly the SCN5A gene. Risk factors include:

• Family history: A strong familial link is often present.
• Male gender: More common in males than females.
• Age: Most cases are diagnosed in adulthood, particularly between the ages of 30 and 50.
• Certain medications: Some drugs can unmask the Brugada pattern, such as antiarrhythmics and certain antidepressants.

Symptoms

Many individuals with Brugada syndrome are asymptomatic, but symptoms can include:

• Syncope (fainting), often triggered by arrhythmias.
• Palpitations or irregular heartbeats.
• Sudden cardiac arrest, particularly during sleep or rest.

Diagnosis

Diagnosis is typically made through:

• Electrocardiogram (ECG): Identification of characteristic ST-segment elevations in the right precordial leads.
• Family history and genetic testing: To confirm hereditary patterns and identify mutations.
• Drug provocation testing: Administering sodium channel blockers (like ajmaline or flecainide) may help reveal the Brugada pattern in some patients.